Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.H139L

MEN1

1,357 papers

RefSeq Summary

This gene encodes menin, a tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. Menin is a scaffold protein that functions in histone modification and epigenetic g...

Pfam Domains

Meninaa 1–146UCSCMenin
Meninaa 1–510UCSCMenin
Meninaa 364–552UCSCMenin
Meninaa 515–608UCSCMenin

Gene Aliases

HGNC Name

menin 1

HGNC Previous Name

multiple endocrine neoplasia I

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001370259.2
p.H139L
c.416A>T
Surrounding Variants
14 papers
NM_001370259.2
p.H139R
c.416A>G
5 papers
NM_001370259.2
p.H139P
c.416A>C
2 papers
NM_001370259.2
p.H139delFs
c.415delG
23 papers
NM_001370259.2
p.H139Y
c.415C>T
38 papers
NM_001370259.2
p.H139D
c.415C>G
4 papers
NM_001370259.2
p.H139Q
c.417C>G
1 paper
NM_001370259.2
p.H139fs
c.415_416fs
4 papers
NM_001370259.2
p.H139Q
c.417C>A
3 papers
NM_001370259.2
p.H139N
c.415C>A
1 paper
NM_001370259.2
p.D136_H139Fs
c.406_415delinsTCCCTFs
1 paper
NM_001370259.2
p.H139delFs
c.416delT
1 paper
NM_001370259.2
p.I140F
c.418A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."